Clinical Genetics
Prenatal diagnosis and genetic counselling for a pedigree carrying a large fragment deletion of 13q
Wu Qinghua, Chen Xin, Yang Saisai, Ren Shumin, Jiao Zhihui, Hou Yaqin, Zhao Yongjiang, Chen Yibing, Shi Huirong, Kong Xiangdong
Published 2022-03-10
Cite as Chin J Med Genet, 2022, 39(3): 334-337. DOI: 10.3760/cma.j.cn511374-20210111-00026
Abstract
ObjectiveTo carry out prenatal diagnosis for a fetus with normal ultrasonographic finding at 20 weeks’ gestation but a copy number variant(CNV) of 13q indicated by non-invasive prenatal test (NIPT).
MethodsKaryotyping analysis and chromosomal CNV assay were carried out on the amniotic fluid sample. Parental peripheral blood sample was collected for chromosomal analysis. Detailed fetal ultrasound scan was carried out to rule out structural abnormalities of the fetus.
ResultsThe fetus was detected with a heterozygous 10.14 Mb deletion at 13q21.1q21.32, which has originated from the phenotypically normal mother. No apparent karyotypic abnormality was detected in the fetus and its parents. No ultrasonic abnormality was found in the fetus.
ConclusionBoth the fetus and its mother have carried a heterozygous 10.14 Mb deletion at 13q21.1q21.32 and presented normal phenotypes.Combined with literature review, the segmental deletion was judged to be a benign variant.
Key words:
13q21.1q21.32 deletion; Chromosome copy number variation; Prenatal diagnosis; Genetic counselling
Contributor Information
Wu Qinghua
Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Chen Xin
Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Yang Saisai
Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Ren Shumin
Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Jiao Zhihui
Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Hou Yaqin
Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Zhao Yongjiang
Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Chen Yibing
Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Shi Huirong
Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Kong Xiangdong
Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
